Varaico: Literature-Extracted Genetic Variants

GATA5

126 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this int...

Pfam Domains

GATA-Naa 1–176UCSCGATA-type transcription activator, N-terminal

GATAaa 189–223UCSCGATA zinc finger

GATAaa 243–277UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 5

HGNC Alias Symbols

bB379O24.1; GATAS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_080473.5

p.P225L

c.674C>T

Surrounding Variants

2 papers

NM_080473.5

p.L226L

c.678C>T

1 paper

NM_080473.5

p.V227I

c.679G>A

4 papers

NM_080473.5

p.N223H

c.667A>C

1 paper

NM_080473.5

p.G221R

c.661G>C

1 paper

NM_080473.5

p.K218N

c.654G>T

5 papers

NM_080473.5

p.K218T

c.653A>C

12 papers

NM_080473.5

p.L233P

c.698T>C

2 papers

NM_080473.5

p.G214S

c.640G>A

1 paper

NM_080473.5

p.N211S

c.632A>G

4 papers

NM_080473.5

p.C210G

c.628T>G

2 papers

NM_080473.5

p.Y208*

c.624C>G

2 papers

NM_080473.5

p.Y208*

c.624C>A